Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.
Michelle F GreenCatherine H WatsonSarah TaitJie HeDean C PavlickGarrett FramptonJinny RiedelJennifer K PlichtaAndrew J ArmstrongRebecca A PrevisNoah KauffJohn H StricklerMichael B DattoAndrew BerchuckCarolyn S MenendezPublished in: The oncologist (2022)
Mutations in HRD genes identified by tumor-only sequencing are frequently germline. Providers should be aware that technical differences related to assay design, variant filtering, and variant classification can contribute to discordance between tumor-only and germline sequencing test results. In addition, SGZ modeling had high predictive power to distinguish between mutations of somatic and germline origin without the need for a matched normal control, and could potentially be considered to inform clinical decision-making.